Variant report

Variant	rs12914380
Chromosome Location	chr15:43242268-43242269
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1058846	1.00[ASN][1000 genomes]
rs12902830	1.00[ASN][1000 genomes]
rs12908349	1.00[ASN][1000 genomes]
rs12910799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12911334	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12915116	1.00[ASN][1000 genomes]
rs17720657	1.00[ASN][1000 genomes]
rs17774047	1.00[ASN][1000 genomes]
rs34474101	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34745458	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34920950	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35088691	1.00[ASN][1000 genomes]
rs35202249	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35298309	1.00[ASN][1000 genomes]
rs35326878	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35392023	1.00[ASN][1000 genomes]
rs35538776	1.00[ASN][1000 genomes]
rs35900502	1.00[ASN][1000 genomes]
rs36092914	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4923954	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924699	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66932813	1.00[ASN][1000 genomes]
rs7163266	0.84[EUR][1000 genomes]
rs72713784	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713795	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719486	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72721511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8037613	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050128	chr15:43056145-43262736	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv542368	chr15:43056145-43262736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv525461	chr15:43062548-43482127	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv904134	chr15:43097652-43357406	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv515876	chr15:43116906-43445305	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv904135	chr15:43143998-43392075	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1036512	chr15:43164906-43274531	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv569239	chr15:43201109-43392075	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv569240	chr15:43201109-43445305	Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv569241	chr15:43201109-43522922	Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
12	nsv1039587	chr15:43204351-43378274	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv569242	chr15:43210030-43445305	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
14	nsv1050987	chr15:43237103-43385515	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv542369	chr15:43237103-43385515	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43225800-43247600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr15:43228200-43242400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr15:43230200-43242400	Weak transcription	NHLF	lung
4	chr15:43231800-43242600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr15:43232000-43362800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:43232400-43243400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:43234000-43242400	Weak transcription	K562	blood
8	chr15:43234200-43242400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr15:43234200-43247600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr15:43234600-43242400	Weak transcription	NHDF-Ad	bronchial
11	chr15:43234800-43243400	Weak transcription	Gastric	stomach
12	chr15:43234800-43248400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr15:43235400-43252600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr15:43236000-43268400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr15:43237600-43244400	Weak transcription	Fetal Brain Male	brain
16	chr15:43237800-43242400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr15:43237800-43242400	Weak transcription	HepG2	liver
18	chr15:43237800-43242400	Weak transcription	NH-A	brain
19	chr15:43237800-43242400	Weak transcription	NHEK	skin
20	chr15:43237800-43242600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr15:43237800-43254800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr15:43238000-43242400	Weak transcription	Brain Substantia Nigra	brain
23	chr15:43238000-43242400	Weak transcription	Fetal Heart	heart
24	chr15:43238000-43242800	Weak transcription	Aorta	Aorta
25	chr15:43239000-43242400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr15:43239000-43242400	Weak transcription	GM12878-XiMat	blood
27	chr15:43239200-43242800	Weak transcription	Primary B cells from cord blood	blood
28	chr15:43239400-43242400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr15:43239400-43242400	Weak transcription	Hela-S3	cervix
30	chr15:43239400-43242600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr15:43239600-43242400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr15:43239600-43248600	Weak transcription	Fetal Kidney	kidney
33	chr15:43240400-43252000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr15:43240800-43242400	Weak transcription	A549	lung
35	chr15:43241200-43251000	Strong transcription	Fetal Lung	lung
36	chr15:43241200-43269800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr15:43241600-43243000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr15:43241600-43245400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr15:43241600-43245400	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr15:43241600-43245600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr15:43241600-43246800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr15:43241600-43246800	Strong transcription	Primary T cells from cord blood	blood
43	chr15:43241600-43246800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
44	chr15:43241600-43246800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr15:43241600-43247000	Strong transcription	Thymus	Thymus
46	chr15:43241600-43247400	Strong transcription	Fetal Intestine Small	intestine
47	chr15:43241600-43248800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr15:43241600-43248800	Strong transcription	Fetal Muscle Leg	muscle
49	chr15:43241600-43251800	Strong transcription	Fetal Stomach	stomach
50	chr15:43241600-43258600	Strong transcription	Stomach Smooth Muscle	stomach

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